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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Mismatch Repair01:20

Mismatch Repair

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
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Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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Related Experiment Video

Updated: Apr 15, 2026

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
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Germline and somatic mutations in meningiomas.

Miriam J Smith1

  • 1Manchester Centre for Genomic Medicine, St Mary's Hospital, University of Manchester, Manchester, UK.

Cancer Genetics
|April 11, 2015
PubMed
Summary

Meningiomas, common brain tumors, are linked to genetic mutations. This review explores predisposition genes and somatic mutations in pathways like SHH-GLI1, offering insights into meningioma development.

Area of Science:

  • Neuro-oncology
  • Cancer Genetics
  • Molecular Biology

Background:

  • Meningiomas are the most common primary tumors of the central nervous system in adults.
  • They arise from the meninges and can cause significant morbidity due to compression.
  • Genetic factors, including mutations in NF2, SMARCB1, SMARCE1, and SUFU, are implicated in meningioma development.

Purpose of the Study:

  • To review known meningioma predisposition genes.
  • To discuss the role of SWI/SNF complex subunits and SHH-GLI1 pathway genes.
  • To explore the link between germline mutations and recently identified somatic mutations in meningiomas.

Main Methods:

  • Literature review of genetic studies on meningiomas.
  • Analysis of predisposition genes and their associated syndromes.
Keywords:
AKT1SMARCB1SMARCE1SUFUmeningioma

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  • Examination of somatic mutations in signaling pathways.

    • Main Results:

    • Germline mutations in NF2, SMARCB1, SMARCE1, and SUFU are associated with increased meningioma risk.
    • Somatic mutations in SHH-GLI1 and AKT1-MTOR pathways are identified in sporadic meningiomas.
    • Potential cross-talk between SHH-GLI1 and AKT1-MTOR pathways in meningioma pathogenesis is suggested.

    Conclusions:

    • Understanding genetic underpinnings of meningiomas is crucial for risk assessment and therapeutic strategies.
    • The identified genes and pathways provide targets for future research and treatment development.
    • Further investigation into pathway interactions may reveal novel therapeutic avenues for meningioma treatment.